Wendy Chung, MD, PhD
Molecular Genetic Stratification of Familial Hypertrophic Cardiomyopathy
Columbia University, New York, NY
2002 Amount Awarded – $45,000
Familial hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disease, and the clinical course and prognosis vary according to the gene and specific mutation involved. Identification of the genetic basis would be useful in patient management and predicting other pre-symptomatic susceptible individuals within families. Because of the large number of different genes involved in familial HCM, genetic testing for this condition is expensive and not currently clinically available. The goal of this study was to develop a method for efficiently and cost effectively determining the genetic basis of HCM in families through linkage analysis and then direct mutations identification. This would also allow us to stratify an individual's risk of heart failure and arrhythmia, to potentially identify pre-symptomatic individuals and to develop individualized methods of clinical surveillance and management. This strategy would be particularly important in rare families in which there is a high risk of sudden death before there is evidence of hypertrophy on echocardiogram.